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OBJECTIVES: To assess the diagnostic performance of the fetal cardiac axis (CA) and/or cardiac position (CP) versus the congenital pulmonary malformation volume ratio (CVR) in predicting any and severe neonatal respiratory morbidity in fetal congenital lung lesions. METHODS: This work was an 11-year retrospective cohort study. The sensitivity, specificity, positive predictive value, and negative predictive value of CA and/or CP assessment in prediction of respiratory morbidity were calculated before 24 weeks' gestation and between 24 and 32 weeks and compared to CVR cutoffs obtained from the literature. RESULTS: Fifty-three patients were included. CA and/or CP abnormalities were present in 45% and 38% of patients before 24 weeks and between 24 and 32 weeks and were significantly more common in left- versus right-sided lesions (60% versus 17%; P = .003). The sensitivity, specificity, positive predictive value, and negative predictive value of an abnormal CA and/or CP for any and severe respiratory morbidity were 0.67, 0.61, 0.33, and 0.86 and 0.8, 0.58, 0.17, and 0.97 before 24 weeks and 0.75, 0.73, 0.45, and 0.91 and 0.8, 0.67, 0.20, and 0.97 between 24 and 32 weeks, respectively. An abnormal CA and/or CP had higher sensitivity for any respiratory morbidity compared to the CVR at 0.5 and 0.8 cutoffs both before 24 weeks and between 24 and 32 weeks (P < .05). CONCLUSIONS: An abnormal CA and/or CP before 24 weeks and between 24 and 32 weeks has higher sensitivity for the detection of any respiratory morbidity at birth compared to the CVR at both 0.5 and 0.8 cutoffs. A normal CA and CP have a high negative predictive value for excluding any respiratory morbidity at birth both before 24 weeks and between 24 and 32 weeks.
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Coração Fetal/anatomia & histologia , Pneumopatias/congênito , Pneumopatias/diagnóstico , Pulmão/embriologia , Pulmão/fisiopatologia , Ultrassonografia Pré-Natal/métodos , Adulto , Estudos de Coortes , Feminino , Humanos , Pneumopatias/fisiopatologia , Gravidez , Estudos Retrospectivos , Sensibilidade e Especificidade , Adulto JovemRESUMO
Congenital cystic lung lesions are a group of rare pathologies that are usually diagnosed in the prenatal period. The majority of these lesions are diagnosed at pathology examination as congenital pulmonary airway malformations (CPAM) and bronchopulmonary sequestration (BPS). These lesions are typically managed by surgical intervention within the first year of life and have an excellent prognosis. We examined the evolution of imaging appearances from prenatal diagnosis to postnatal work-up of these lesions and correlate imaging and pathological findings. An 8-year retrospective review of the perinatal and pathology database of a single tertiary care center identified 42 cases of congenital cystic lung lesions of which 36 had known prenatal ultrasound and prenatal course available. Final pathologic diagnoses were 15 CPAM (41%), 7 BPS (19%), and 9 hybrid BPS and CPAM lesions (25%). Five cases with bronchial atresia were also identified (either in isolation or associated with CPAM or BPS). The overall characteristics of these lesions by prenatal ultrasound, postnatal imaging, and ultimate histopathologic diagnosis are described.
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Sequestro Broncopulmonar/diagnóstico por imagem , Sequestro Broncopulmonar/patologia , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Malformação Adenomatoide Cística Congênita do Pulmão/patologia , Ultrassonografia Pré-Natal , Adulto , Progressão da Doença , Feminino , Seguimentos , Humanos , Recém-Nascido , Masculino , Gravidez , Prognóstico , Estudos RetrospectivosRESUMO
OBJECTIVE: To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS: Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS: We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>A (p.Arg257His) encoding x03B3;-2 smooth muscle actin (ACTG2) in 2 siblings with MMIHS, suggesting gonadal mosaicism of one of the parents. Two additional de novo missense variants (p.Arg257Cys and p.Arg178His) in ACTG2 were identified in 2 additional MMHIS patients. All of our patients had evidence of fetal megacystis and a normal or slightly increased amniotic fluid volume. Additional findings included bilateral renal hydronephrosis, an enlarged fetal stomach, and transient dilated bowel loops. ACTG2 immunostaining of the intestinal tissue showed an altered muscularis propria, a markedly thinned longitudinal muscle layer, and a reduced amount and abnormal distribution of ACTG2. CONCLUSION: Our study demonstrates that de novo mutations in ACTG2 are a cause of fetal megacystis in MMIHS and that gonadal mosaicism may be present in a subset of cases. These findings have implications for the counseling of families with a diagnosis of fetal megacystis with a preserved amniotic fluid volume and associated gastrointestinal findings.
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Anormalidades Múltiplas/genética , Actinas/genética , Colo/anormalidades , Duodeno/anormalidades , Doenças Fetais/diagnóstico por imagem , Pseudo-Obstrução Intestinal/genética , Mutação de Sentido Incorreto , Bexiga Urinária/anormalidades , Adulto , Análise Mutacional de DNA , Duodeno/diagnóstico por imagem , Feminino , Doenças Fetais/genética , Humanos , Intestino Delgado/patologia , Masculino , Dados de Sequência Molecular , Gravidez , Diagnóstico Pré-Natal , Alinhamento de Sequência , Ultrassonografia , Bexiga Urinária/diagnóstico por imagemRESUMO
OBJECTIVE: To investigate prenatal ultrasonographic findings associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS: A PubMed search was performed using the terms 'MMIHS', 'MMIH' and 'prenatal diagnosis'. RESULTS: A total of 50 cases were analyzed. Prenatal diagnosis was achieved in 26% of cases. In 54% of patients with a correct antenatal diagnosis there was a previously affected sibling. Fetal megacystis with or without hydroureteronephrosis was the most common initial ultrasonographic finding (88%). While megacystis eventually complicated all fetal presentations, isolated bilateral hydronephrosis and isolated dilated stomach were noted (in 10 and 2% of cases, respectively) prior to megacystis. The initial sonographic abnormality was most commonly detected (in 70% of patients) in the second trimester. Amniotic fluid was normal in 69% and increased in 27% of cases. Gastrointestinal abnormalities were noted in 24% of pregnancies. CONCLUSION: MMIHS should be prenatally suspected when fetal megacystis is associated with a normal or increased amount of amniotic fluid and normal external genitalia, especially in the setting of a suggestive family history. Associated gastrointestinal findings support this diagnosis. Isolated bilateral hydronephrosis may precede the development of megacystis. Due to preserved renal function and a general absence of oligohydramnios, no rationale exists for vesicoamniotic shunt placement.
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Anormalidades Múltiplas/diagnóstico por imagem , Colo/anormalidades , Pseudo-Obstrução Intestinal/diagnóstico por imagem , Ultrassonografia Pré-Natal/normas , Bexiga Urinária/anormalidades , Anormalidades Múltiplas/cirurgia , Adulto , Colo/diagnóstico por imagem , Colo/cirurgia , Feminino , Humanos , Recém-Nascido , Pseudo-Obstrução Intestinal/cirurgia , Masculino , Gravidez , Ultrassonografia Pré-Natal/métodos , Bexiga Urinária/diagnóstico por imagem , Bexiga Urinária/cirurgiaRESUMO
We used whole exome sequence analysis to investigate a possible genetic etiology for a patient with the phenotype of intrauterine growth restriction, microcephaly, developmental delay, failure to thrive, congenital bilateral hip dysplasia, cerebral and cerebellar atrophy, hydrocephalus, and congenital diaphragmatic hernia (CDH). Whole exome sequencing identified a novel de novo c.2722G > T (p.E908X) mutation in the Myosin Heavy Chain 10 gene (MYH10) which encodes for non-muscle heavy chain II B (NMHC IIB). Mutations in MYH10 have not been previously described in association with human disease. The E908X mutation is located in the coiled-coil region of the protein and is expected to delete the tail domain and disrupt filament assembly. Nonmuscle myosin IIs (NM IIs) are a group of ubiquitously expressed proteins, and NM II B is specifically enriched in neuronal tissue and is thought to be important in neuronal migration. It is also expressed in cardiac myocytes along with NM IIC. Homozygous NMHC II B-/B- mouse knockouts die by embryonic day (E)14.5 with severe cardiac defects (membranous ventricular septal defect and cardiac outflow tract abnormalities) and neurodevelopmental disorders (progressive hydrocephalus and neuronal migrational abnormalities). A heterozygous MYH10 loss of function mutation produces a severe neurologic phenotype and CDH but no apparent cardiac phenotype and suggests that MYH10 may represent a novel gene for brain malformations and/or CDH.
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OBJECTIVE: Autonomic neuropathy has recently been recognized as a potential risk factor in pregnancy of type 1 diabetics. The aim of the study was to highlight this poorly recognized problem in the obstetric management of diabetic mothers. STUDY DESIGN: 94 pregnant type 1 diabetics aged 20-35 with a minimum five--year duration of diabetes. A normal population, i.e. 46 age-matched pregnant women without diabetes were evaluated, because there are no normal values for this population. Cardiovascular tests and structured clinical examination were performed on 3 occasions 3 times during pregnancy (once in each trimester). Cardiovascular tests were performed using the ProSciCard system. A full test battery were performed and six basic tests were evaluated. HbA1c was used to assess diabetes control. Diabetic polyneuropathy was clinically assessed by Dyck's staging system. RESULTS: The incidence of moderate and severe autonomic neuropathy in type-1 diabetic pregnant women was 8.5%. There was no increase in the perinatal morbidity and mortality associated with moderate and severe autonomic neuropathy. CONCLUSION: The presence of moderate to severe symptomatic autonomic neuropathy in patients with type-1 diabetes is not a contraindication for pregnancy. If pregnancy is achieved, the patients should be monitored for the occurrence of pernicious vomiting.
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Doenças do Sistema Nervoso Autônomo/diagnóstico , Diabetes Mellitus Tipo 1 , Neuropatias Diabéticas/diagnóstico , Complicações Cardiovasculares na Gravidez/diagnóstico , Gravidez em Diabéticas , Adulto , Doenças do Sistema Nervoso Autônomo/complicações , Neuropatias Diabéticas/complicações , Feminino , Humanos , Recém-Nascido , GravidezRESUMO
AIM: To evaluate potential risk factors and perinatal outcome of pregnancies complicated with placenta previa in Croatian population of pregnant women recruited from the largest tertiary care perinatal center in Croatia. METHODS: This retrospective case-control study included a total of 202 singleton pregnancies with placenta previa during a 10-year study period and 1,004 randomly selected simple singleton controls. Data on potential risk factors for placenta previa development were carefully extracted from medical records, reviewed, and compared with a control group of women. Data were statistically analyzed with chi-square test and Mann-Whitney U test, and crude odds ratio (OR) with 95% confidence interval (95% CI) were provided. RESULTS: The incidence of placenta previa was 0.4%. Factors significantly associated with a placenta previa development were advanced maternal age (especially >34 years, even after adjustment for high parity), gravidity of 3 and more (OR, 4; 95% CI, 2.5-6.6), more than one previous delivery (OR, 2.76; 95% CI, 1.7-4.3), history of previous cesarean sections (OR, 2.0; 95% CI, 1.17-3.44), abortions (OR, 2.8; 95% CI, 2.04-3.83), and presence of various uterine abnormalities (OR, 8.5; 95% CI, 1.75-44.5). The risk was significantly increased after two previous cesarean sections (OR, 7.32; 95% CI, 2.1-25) and after one previous abortion (OR, 4.8; 95% CI, 2.7-8.3). No difference between the groups was found regarding the history of previous placenta previa, drug abuse, and male sex at birth. Smoking history was significantly less frequent in women with placenta previa than controls (16.3% vs 25.6%, chi-square=7.9, p=0.007). The main perinatal complication was preterm birth, with 14-fold higher risk in women with placenta previa. Preterm infants of mothers with placenta previa were more likely to have lower first- (6 vs 10, p<0.001) and fifth-minute median Apgar scores (8 vs 10, p<0.045). Term infants of mothers with placenta previa had significantly lower birth weight then their controls (3,300 vs 3,500 g, p<0.001). CONCLUSION: The most important obstetric factors for placenta previa development were advanced maternal age especially >34 years, 3 or more previous pregnancies, parity of 2 and more, rising number of previous abortions, and history of previous cesarean section, but not child sex at birth, history of drug abuse and previous placenta previa. Smoking cigarettes was significantly less frequent in women with placenta previa. Preterm delivery still remains the greatest problem in pregnancies complicated with placenta previa.